Varaico: Literature-Extracted Genetic Variants

ALMS1

603 papers

RefSeq Summary

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formati...

Pfam Domains

ALMS_repeataa 539–585UCSCAlstrom syndrome repeat

ALMS_repeataa 586–632UCSCAlstrom syndrome repeat

ALMS_repeataa 633–679UCSCAlstrom syndrome repeat

ALMS_repeataa 680–726UCSCAlstrom syndrome repeat

ALMS_repeataa 727–774UCSCAlstrom syndrome repeat

ALMS_repeataa 775–821UCSCAlstrom syndrome repeat

Gene Aliases

HGNC Name

ALMS1 centrosome and basal body associated protein

HGNC Alias Symbol

KIAA0328

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378454.1

p.V950insFs

c.2850dupG

Surrounding Variants

1 paper

NM_001378454.1

p.V950A

c.2849T>C

1 paper

NM_015120.4

p.S953insFs

c.2859dupT

1 paper

NM_001378454.1

p.H955H

c.2865C>T

1 paper

NM_001378454.1

p.A942G

c.2825C>G

5 papers

NM_001378454.1

p.L940*

c.2819T>A

NM_015120.4

p.L941*

c.2822T>A

1 paper

NM_015120.4

p.S963_Y966delFs

c.2888_2897del10

4 papers

NM_001378454.1

p.V939E

c.2816T>A

1 paper

NM_015120.4

p.S963fs

c.2887_2888fs

2 papers

NM_001378454.1

p.V963_Q966delFs

c.2888_2897del10

1 paper

NM_001378454.1

p.S935L

c.2804C>T

1 paper

NM_015120.4

p.E969insFs

c.2905_2906insT

1 paper

NM_001378454.1

p.E968G

c.2903A>G